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Aliases for LEMD3 Gene

Aliases for LEMD3 Gene

  • LEM Domain Containing 3 2 3 5
  • LEM Domain-Containing Protein 3 3 4
  • MAN1 3 4
  • Integral Inner Nuclear Membrane Protein 3

External Ids for LEMD3 Gene

Previous GeneCards Identifiers for LEMD3 Gene

  • GC12P063850
  • GC12P065563
  • GC12P062615

Summaries for LEMD3 Gene

Entrez Gene Summary for LEMD3 Gene

  • This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]

GeneCards Summary for LEMD3 Gene

LEMD3 (LEM Domain Containing 3) is a Protein Coding gene. Diseases associated with LEMD3 include buschke-ollendorff syndrome and melorheostosis with osteopoikilosis. Among its related pathways are Regulation of Glucokinase by Glucokinase Regulatory Protein and Mitotic Prophase. GO annotations related to this gene include nucleotide binding. An important paralog of this gene is LEMD2.

UniProtKB/Swiss-Prot for LEMD3 Gene

  • Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LEMD3 Gene

Genomics for LEMD3 Gene

Regulatory Elements for LEMD3 Gene

Promoters for LEMD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LEMD3 on UCSC Golden Path with GeneCards custom track

Genomic Location for LEMD3 Gene

Chromosome:
12
Start:
65,169,571 bp from pter
End:
65,248,361 bp from pter
Size:
78,791 bases
Orientation:
Plus strand

Genomic View for LEMD3 Gene

Genes around LEMD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LEMD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LEMD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LEMD3 Gene

Proteins for LEMD3 Gene

  • Protein details for LEMD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2U8-MAN1_HUMAN
    Recommended name:
    Inner nuclear membrane protein Man1
    Protein Accession:
    Q9Y2U8
    Secondary Accessions:
    • Q9NT47
    • Q9NYA5

    Protein attributes for LEMD3 Gene

    Size:
    911 amino acids
    Molecular mass:
    99997 Da
    Quaternary structure:
    • Interacts with SMAD1, SMAD2, SMAD3 and SMAD5. Binds to both phosphorylated and unphosphorylated R-SMADS.

    Three dimensional structures from OCA and Proteopedia for LEMD3 Gene

neXtProt entry for LEMD3 Gene

Proteomics data for LEMD3 Gene at MOPED

Post-translational modifications for LEMD3 Gene

  • Ubiquitination at Lys 787
  • Modification sites at PhosphoSitePlus

Other Protein References for LEMD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for LEMD3 Gene

Domains & Families for LEMD3 Gene

Gene Families for LEMD3 Gene

Suggested Antigen Peptide Sequences for LEMD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2U8

UniProtKB/Swiss-Prot:

MAN1_HUMAN :
  • Contains 1 LEM domain.
Domain:
  • Contains 1 LEM domain.
genes like me logo Genes that share domains with LEMD3: view

Function for LEMD3 Gene

Molecular function for LEMD3 Gene

UniProtKB/Swiss-Prot Function:
Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest.

Gene Ontology (GO) - Molecular Function for LEMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with LEMD3: view

Phenotypes for LEMD3 Gene

genes like me logo Genes that share phenotypes with LEMD3: view

Human Phenotype Ontology for LEMD3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for LEMD3 Gene

Localization for LEMD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LEMD3 Gene

Nucleus inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LEMD3 Gene COMPARTMENTS Subcellular localization image for LEMD3 gene
Compartment Confidence
nucleus 5
plasma membrane 3
endoplasmic reticulum 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for LEMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005639 integral component of nuclear inner membrane IEA --
GO:0016020 membrane TAS 10671519
genes like me logo Genes that share ontologies with LEMD3: view

Pathways & Interactions for LEMD3 Gene

genes like me logo Genes that share pathways with LEMD3: view

Pathways by source for LEMD3 Gene

1 GeneGo (Thomson Reuters) pathway for LEMD3 Gene

Gene Ontology (GO) - Biological Process for LEMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030514 negative regulation of BMP signaling pathway IDA 15647271
GO:0032926 negative regulation of activin receptor signaling pathway IDA 15647271
genes like me logo Genes that share ontologies with LEMD3: view

No data available for SIGNOR curated interactions for LEMD3 Gene

Drugs & Compounds for LEMD3 Gene

No Compound Related Data Available

Transcripts for LEMD3 Gene

Unigene Clusters for LEMD3 Gene

LEM domain containing 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LEMD3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b
SP1: -
SP2:

Relevant External Links for LEMD3 Gene

GeneLoc Exon Structure for
LEMD3
ECgene alternative splicing isoforms for
LEMD3

Expression for LEMD3 Gene

mRNA expression in normal human tissues for LEMD3 Gene

Protein differential expression in normal tissues from HIPED for LEMD3 Gene

This gene is overexpressed in Testis (15.5), Peripheral blood mononuclear cells (11.0), and Pancreas (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LEMD3 Gene



SOURCE GeneReport for Unigene cluster for LEMD3 Gene Hs.744150

mRNA Expression by UniProt/SwissProt for LEMD3 Gene

Q9Y2U8-MAN1_HUMAN
Tissue specificity: Heart, brain, placenta, lung, liver and skeletal muscle.
genes like me logo Genes that share expression patterns with LEMD3: view

Protein tissue co-expression partners for LEMD3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for LEMD3 Gene

Orthologs for LEMD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for LEMD3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LEMD3 35
  • 92.85 (n)
  • 93.18 (a)
LEMD3 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LEMD3 35
  • 88.53 (n)
  • 86.83 (a)
LEMD3 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lemd3 35
  • 86.23 (n)
  • 86.57 (a)
Lemd3 16
Lemd3 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LEMD3 35
  • 99.74 (n)
  • 99.89 (a)
LEMD3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lemd3 35
  • 86.5 (n)
  • 86.58 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia LEMD3 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves LEMD3 35
  • 80.45 (n)
  • 82.05 (a)
LEMD3 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LEMD3 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lemd3 35
  • 66.82 (n)
  • 67.23 (a)
African clawed frog
(Xenopus laevis)
Amphibia XMAN1 35
zebrafish
(Danio rerio)
Actinopterygii lemd3 35
  • 64.46 (n)
  • 67.15 (a)
lemd3 36
  • 51 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lem-2 36
  • 20 (a)
OneToOne
Species with no ortholog for LEMD3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LEMD3 Gene

ENSEMBL:
Gene Tree for LEMD3 (if available)
TreeFam:
Gene Tree for LEMD3 (if available)

Paralogs for LEMD3 Gene

Paralogs for LEMD3 Gene

genes like me logo Genes that share paralogs with LEMD3: view

Variants for LEMD3 Gene

Sequence variations from dbSNP and Humsavar for LEMD3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs7487311 - 65,170,374(+) ATTCG(G/T)ACTCA reference, missense
rs2888 -- 65,248,205(-) TTGCA(A/G)GGAGG utr-variant-3-prime
rs12071 -- 65,248,226(-) TTATA(C/T)ACATT utr-variant-3-prime
rs736161 -- 65,169,501(+) CCCGC(A/G)GCGCT upstream-variant-2KB
rs969785 -- 65,188,668(-) AAGAT(G/T)GAGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LEMD3 Gene

Variant ID Type Subtype PubMed ID
nsv832445 CNV Gain 17160897
nsv522671 CNV Loss 19592680

Variation tolerance for LEMD3 Gene

Residual Variation Intolerance Score: 22.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.85; 34.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LEMD3 Gene

HapMap Linkage Disequilibrium report
LEMD3
Human Gene Mutation Database (HGMD)
LEMD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LEMD3 Gene

Disorders for LEMD3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for LEMD3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
buschke-ollendorff syndrome
  • osteopoikilosis
melorheostosis with osteopoikilosis
  • melorheostosis
melorheostosis
isolated osteopoikilosis
  • osteopoikilosis, isolated
elastoma
  • juvenile elastoma without osteopoikilosis
- elite association - COSMIC cancer census association via MalaCards
Search LEMD3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MAN1_HUMAN
  • Buschke-Ollendorff syndrome (BOS) [MIM:166700]: A disease characterized by osteopoikilosis and disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Elastic-type nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS. Skin or bony lesions can be absent in some family members, whereas other relatives may have both. {ECO:0000269 PubMed:15489854}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Melorheostosis (MEL) [MIM:155950]: Rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LEMD3

Genetic Association Database (GAD)
LEMD3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LEMD3
genes like me logo Genes that share disorders with LEMD3: view

No data available for Genatlas for LEMD3 Gene

Publications for LEMD3 Gene

  1. MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin. (PMID: 10671519) Lin F. … Worman H.J. (J. Biol. Chem. 2000) 2 3 4 23 67
  2. Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family. (PMID: 20083694) Yadegari M. … Cohen S.R. (Arch Dermatol 2010) 3 23
  3. Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis. (PMID: 17087626) Mumm S. … Whyte M.P. (J. Bone Miner. Res. 2007) 3 23
  4. The carboxyl-terminal nucleoplasmic region of MAN1 exhibits a DNA binding winged helix domain. (PMID: 16648637) Caputo S. … Zinn-Justin S. (J. Biol. Chem. 2006) 3 23
  5. MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling. (PMID: 15601644) Lin F. … Worman H.J. (Hum. Mol. Genet. 2005) 3 23

Products for LEMD3 Gene

Sources for LEMD3 Gene

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